Collectively, our work has led to novel pathophysiologic and therapeutic insights for diseases, such as heart failure, aortic aneurysms, diabetes, and
skeletal myopathies.
We suggest these observations will have therapeutic implications for
skeletal myopathies and systemic diseases such as diabetes and obesity and for the aged population, in which reduced endurance impacts mortality and activities of daily living (57); as well as societal implications in terms of altering athletic performance.
Not exact matches
Researchers who previously showed that a gene therapy treatment could save the lives of dogs with a deadly disease called myotubular
myopathy — a type of muscular dystrophy that affects the
skeletal muscles — have found that the therapy is long - lasting.
About six in 100,000 babies are born with centronuclear
myopathy, which weakens
skeletal muscles so severely that children have trouble eating and breathing and often die before age 18.
Dogs Provide Insight Into Rare Genetic Disease Centronuclear
myopathy weakens
skeletal muscles so severely that sufferers often die before age 18.
In his graduate research, Linsley discovered the gene Stac3 is a component of the excitation - contraction machinery in
skeletal muscle and the mechanism by which mutations in that gene cause Native American
Myopathy, a rare but devastating congenital disease.
Abstract Type 1 ryanodine receptor (RyR1) is preferentially expressed in
skeletal muscle, and mutations in the gene have been associated with malignant hyperthermia, a pharmacogenetic disease, and with several congenital
myopathies, including central core disease, multiminicore disease, centronuclear
myopathy, congenital fibre type disproportion.
It is known that long - term treatment of rats with the drug causes
myopathy and decreased
skeletal muscle protein concentration (20,21).
Avian Chlamydiosis; Bloodborne Organisms; Disorders of the
Skeletal System (Poultry);
Myopathies (Poultry)